Hereditary multiple exostoses
Correction of knee and ankle valgus in hereditary multiple exostoses using the Ilizarov apparatus
... Hereditary multiple exostoses (HME) is a dominantly inherited genetic disorder, caused by point mutations in the exostosin gene family and characterized by multiple benign cartilage-capped ...
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Developmental pattern of the hip in patients with hereditary multiple exostoses
... Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the presence of multiple osteochondromas with a prevalence of ap- proximately 1 in 50,000 ...
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<p>Hereditary Multiple Exostoses: Current Insights</p>
... Abstract: Hereditary multiple exostoses (HME), also called hereditary multiple osteochon- dromas, is a rare genetic disorder characterized by multiple osteochondromas that grow ...
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Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?
... Background: Osteochondroma generally occurs as a single lesion and it is not a heritable disease. When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary ...
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Mice deficient in Ext2 lack heparan sulfate and develop exostoses
... HS is a glycosaminoglycan (GAG), a linear polysaccharide composed of alternating D-glucuronic acid (GlcA) and N- acetyl-D-glucosamine (GlcNAc) subunits. The biosynthesis of HS is a complex process that involves a whole ...
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Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
... Hereditary multiple exostoses (HME) has also been known as hereditary multiple osteochondromas (HMO) because of the development of at least two or more benign outgrowths of the ...
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Subacromial impingement syndrome in a patient with hereditary multiple exostosis: a case report
... Hereditary multiple exostoses (HME) is one of the most commonly inherited musculoskeletal conditions, with an incidence of one in 50,000 and demonstrates an auto- somal dominant trait ...The ...
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Simultaneous Video Assisted Thoracoscopic Costal and Femoral Osteochondromas Resection in a Child with Multiple Exostoses Disease: A Case Report and Literature Review
... Osteochondromas are the most common benign bone neo- plasms. They occur in 3% of the general population and account for more than 30% of all benign bone tumours and for 10%–15% of all bone tumours. Exostosis can occur as ...
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A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma
... 10 Dobson-Stone C, Cox RD, Lonie L, Southam L, Fraser M, Wise C, Bernier F, Hodgson S, Porter DE, Simpson AH et al. 2000 Comparison of fluorescent single–strand conformation polymorphism analysis and denaturing ...
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Original Article Analysis of EXT1 gene mutation in hereditary multiple exostosis families
... Hereditary multiple exostoses (HME) is also known as hereditary multiple osteochondro- mas (HMO), familial multiple exostosis and hereditary teratogenicosteochondroma ...
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Do hereditary syndrome-related gynecologic cancers have any specific features?
... dominant hereditary disorder characterized by a germline mu- tation in the tumour-suppression gene p53, which leads to an estimated 50-fold risk over the general population of develop- ing several types of cancer ...
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Multiple Hereditary Exostosis of Distal Ulna with Dislocation of Radial Head: A Case Report
... The first description of a patient with multi- ple exostosis has been attributed to Hunter in 1786. In 1814, Boyer published the first des- cription of a family with multiple hereditary exostosis (MHE). ...
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Clinical Reasoning: A 15-year-old boy with bilateral wrist pain in the setting of weight loss
... for multiple focal neuropathies is narrow compared to generalized ...When multiple focal neuropathies are found at common compressive sites as in bilateral carpal tunnels and ulnar grooves as in this case, ...
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ASCERTAINING GENETIC CARRIERS OF HEREDITARY SPHEROCYTOSIS BY STATISTICAL ANALYSIS OF MULTIPLE LABORATORY TESTS
... Correlations of groups of tests indicated that 4 tests spherocyte score, reticulocyte count, hemoglobin, and bilirubin accounted for 88 per cent of the variability between normal subject[r] ...
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Clinical management of hereditary colorectal cancer syndromes
... However, some patients with polyposis might have multiple polyps with variable histology and might show overlap between clinically defined syndromes such as hereditary mixed polyposis[r] ...
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Multiple endocrine neoplasia type 1
... 34. Giraud S, Zhang CX, Serova-Sinilnikova O, Wautot V, Salandre J, Buisson N, Waterlot C, Bauters C, Porchet N, Aubert JP, Emy P, Cadiot G, Delemer B, Chabre O, Niccoli P, Leprat F, Duron F, Emper- auger B, Cougard P, ...
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The expanding repertoire of hereditary information carriers
... of hereditary information that is carried by the germline and that is readable during offspring ...the hereditary information carrier because the information stored in genomic DNA sequences is largely ‘ ...
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The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins
... of exostoses Recent advances in the understanding of the molecular biology of endochondral ossification have also proved valuable to the understanding of ...
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A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene
... Reed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to ...
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A family with hereditary ataxia
... A family with hereditary ataxia Med J Malaysia Vol 35 No 2 December 1980 A FAMILY WITH HEREDITARY ATAXIA C T TAN SUMMARY An Indian family with four members having hereditary ataxia was presented The i[.] ...
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